Abstract
A child with the Dyggve-Melchior-Clausen syndrome associated with elevated pipecolic acid levels in plasma and urine is described. Other studies of peroxisomal function, including phytanic acid, very long-chain fatty acids, and plasmalogen synthesis, were normal. This disorder may represent an incompletely characterized defect in peroxisomal metabolism.
Original language | English (US) |
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Pages (from-to) | 876-880 |
Number of pages | 5 |
Journal | Journal of Inherited Metabolic Disease |
Volume | 14 |
Issue number | 6 |
DOIs | |
State | Published - Nov 1991 |
Externally published | Yes |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)